Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.Y91H

PRPH2

662 papers

RefSeq Summary

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the pre...

Pfam Domains

Tetraspaninaa 16–288UCSCTetraspanin family

Gene Aliases

HGNC Name

peripherin 2

HGNC Previous Symbols

RP7; RDS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000322.5
p.Y91H
c.271T>C
Surrounding Variants
5 papers
NM_000322.5
p.Y91N
c.271T>A
1 paper
NM_000322.5
p.A92T
c.274G>A
4 papers
NM_000322.5
p.A89_K90Fs
c.265_268delinsAGGGCCFs
6 papers
NM_000322.5
p.D87_A89delFs
c.259_266del8
1 paper
NM_000322.5
p.P88insFs
c.264dupA
1 paper
NM_000322.5
p.A89P
c.265G>C
2 papers
NM_000322.5
p.A89fs
c.265_266fs
1 paper
NM_000322.5
p.R93R
c.277A>C
3 papers
NM_000322.5
p.A92insFs
c.276dupC
3 papers
NM_000322.5
p.R93fs
c.277_278fs
1 paper
NM_000322.5
p.P88L
c.263C>T
1 paper
NM_000322.5
p.D87del1
c.259_260delGTC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."